ORIGINAL

Niger J Paed 2012; 39 (4):164 –167

Otaigbe BE

Tabansi PN

Agbedeyi GO

Pattern of congenital heart defects

in children with Down syndrome at

the University of Port Harcourt

Teaching Hospital, Port Harcourt

DOI:http://dx.doi.org/10.4314/njp.v39i4,3

Accepted: 31st March 2012

Abstract Down syndrome (DS) is

the most common chromosomal

abnormality in man and congenital

heart defects (CHD) the most life

threatening of its manifestations.

The cardiac anomalies and early

pulmonary hypertension are associ-

ated with high morbidity and mor-

tality. It is thus important to diag-

indication for surgery, clinical and

echocardiographic findings and

o u t c o m e w a s a n a l y s e d .

Result: Of the 31 patients who had

echocardiography done, all had

cardiac defects (100%). Patent duc-

tus arteriosus, occurring solitarily or

in combinations was the common-

est cardiac defect seen followed by

(

)

Agbedeyi GO

Otaigbe BE, Tabansi PN

Department of Paediatrics,

University of Port Harcourt

Teaching Hospital,

Port Harcourt, Rivers State.

Nigeria.

E-mail: tagbedeyi@yahoo.com

Tel : +2348033908601

nose and intervene early to improve ventricular septal defects. Interest-

the quality of life. Few studies ingly, over 60 % of the patients had

have been done on Down syndrome multiple cardiac defects with VSD/

patients in Nigeria.

PDA, VSD/ASD accounting for

50%.

Objective: The objective was to

find out the incidence and types of

congenital heart defects in Down

syndrome patients seen in the Pae-

diatric cardiology unit of this terti-

ary institution.

Method: A prospective study of

Down Syndrome patients seen at

the Paediatric Cardiology clinic of

the University of Port Harcourt

Teaching Hospital over a three year

period was carried out. Data of age,

sex, birth order, mother’s age,

Conclusion: The incidence of mul-

tiple cardiac defects in more than

60% of DS patients seen under-

scores the need for early diagnosis

and intervention. Routine extensive

cardiac evaluation in the first few

weeks of life is advocated.

Key word: Down syndrome, con-

genital heart defects, Port Harcourt,

Nigeria.

Introduction

ture as 40-60% of DS children a₂_-l₄s_,₇o_,₉have been found to

have congenital heart defects. It is important to

Down Syndrome (also known as Tris₁omy 21) is the

commonest chromosomal abnormality with affected

individuals presenting with multiple malformations and

mental retardation arising from the presence of an extra

make a diagnosis₉_,₁o₀f congenital heart disease in the first

six weeks of life as heart disease is a major factor that

3,8

determines the outcome of DS children. It is therefore

recommended that physicians have a high level of clini-

cal suspicion for conge₀nital heart disease in neonates

2

chromosome 21. There are three types of Down Syn-

1

drome (DS) – non-familial or non-disjunction (95%),

unba₂la_,₃nced translocation (3-4%) and mosaicism (1-

with Down Syndrome. The commonest heart defects

seen in DS are atrio-ventricular canal defects, ventricu-

lar septal defects, patent ductus arteriosus, atrial septal

defects and less commonly tetralogy of Fall₃o_,₄t_,,₇_,₉coarcta-

all of

2

live births and the incidence varies from 1:650 to 700.

%).

The birth prevalence of DS is 9.6 per 10,000

4 3,5

The clinical features of Down syndrome can be variable

with the presence of two or more suggesting a possible

tion of the aorta and pulmonary stenosis,

which may occur in isolation or in various combina-

tions. Down syndrome children with congenital heart

defects develop irreversible pulmonary vascular disease

6

diagnosis and the need for chromosomal studies. Chro-

mosomal analysis of p_,₈eripheral blood lymphocytes gives

7

9

a diagnosis of DS. Affected children present with

earlier than other non-DS patients with heart defects.

varying phenotypical features, commonly prominent

epicanthic folds, flat nasal bridge, small mouth, hypoto-

nia, single transverse palmar crease, clinodacytly, San-

Initially, following the diagnosis of heart disease DS

patients were not given the option of corrective surgery

either by health personnel or parents as their life expec-

tancy was low and death from Eisenmenger’s syndrome

2

dal gap etc. Congenital heart disease is a common fea-

1

65

9

was common. Over the years this attitude has changed

of age.

and more children now have early surgery before they

1

are six months old. The outcome of surgery has also

greatly improved.

Table 1: Age ranges of mothers.

1

1,12

Age (years)

Number

%

In Nigeria, a recent study done that involved Down syn-

drome patients found that they constituted 78.3% of all

syndrome complexes seen and that the commonest heart

defects were vent₁r₃icular septal defects and atrioventricu-

lar canal defects .

This study was undertaken in Port Harcourt to ascertain

the incidence and types of congenital heart defects seen

amongst Down syndrome patients at the Paediatric Car-

diology clinic.

2

1-25

3

4.8

2

3

6-30

1-35

8

10

28.6

33.3

>

35

10

33.3

The age of the fathers ranged from 33 to 53 years. The

mean age for the fathers was 44 years.

All the patients had dysmorphic features, only 12 (39%)

had a single transverse palmar crease (9 females and 3

males). 13 (42%) of the patients were referred because

of failure to thrive and recurrent chest infections. 90.2 %

were referred because murmurs were heard.

Method

Of the 38 patients only 31 had echocardiography done

because of financial constraints.

This was a prospective study carried out at the Paediatric

Cardiology clinic of the University of Port Harcourt

Teaching Hospital (UPTH) on all patients who pre-

sented with features of Down Syndrome between Janu-

ary 2009 and February 2012. Patients seen in the clinic

are usually referred from the Paediatric outpatient clinic

if they present with a murmur, failure to thrive, recurrent

chest infection or heart failure. In addition for Down

patients, the indication included dysmorphic features.

The following information was obtained from children

with features of Down syndrome - name, age, sex, clini-

cal features, birth weight, birth order, mothers’ and fa-

thers’ ages, indication for referral to Cardiology unit ,

echocardiography findings and outcome. Echocardiogra-

phy was done by the Consultant Paediatric Cardiologist

using the Sonosite Micromaxx machine. Data was ana-

lysed using Epi Info six.

Table 2 shows the common cardiac defects found in

these patients.

Table 2: Heart defects seen in Down syndrome patients

Cardiac defect

Number

%

Solitary VSD

Solitary ASD

Solitary PDA

AVCD

3

2

4

3

5

2

1

2

1

10

6

13

10

16

6

VSD/PDA

VSD/ASD

TOF/ASD

TGA/VSD

PS

3

Results

3

A total number of two hundred and fifty - three patients

with congenital heart disease were seen over the study

period, of which thirty- eight (15%) had features of

Down syndrome. However only 31 patients had echo

done and these alone were analysed. This gave an inci-

dence of 12%. There were 17 females and 14 males with

a male-female ratio of 1:1.Their ages ranged from 0.5

months to 130 months.

AVCD/PDA

TOF

6

3

DORV

3

ASD/VSD/PDA

3

Key: TGA - Transposition of the Great Arteries AVCD – Atrio-

ventricular Canal Defect PS – Pulmonary stenosis

Four of the children had low birth weight (13%), 12

Isolated cardiac defects were seen in nine (29%), PS,

TOF and DORV in one (3%) patient each , while multi-

ple cardiac defects (ASD/PDA, ASD/VSD, VSD/PDA,

ASD/VSD/PDA, TOF/ASD. TOF/PDA, AVCD,

AVCD/PDA, TOF/ASD) were seen in 19 (61%) of pa-

tients.

(

39%) had normal birth weights and 15 (48%) of them

were born at health centres or maternity homes where

their birth weights were not recorded. With respect to

order of birth, 23.8% were first born, 20.4 % second

born, 19% t_th_hird born, 30.6% fourth born and only one

each were 6 and seventh children respectively. Their

mothers’ ages ranged from 25 to 42 years. The mean of

their ages was 34years. 61.9% of the mothers were aged

between 26 and 35 years and 30% were above 35years

Only five of the patients (16%) have had cardiac surgery

and all in India. Six (19%) have died, one in India be-

fore undergoing surgery, one from severe pulmonary

1

66

hypertension after surgery , one due to complications of

surgery for achalasia of the oesophagus, two from

intractable heart failure in UPTH and two at home with

immediate cause unknown. 20 (65%) are on follow-up

and being managed medically while awaiting surgery.

myopathy and hypertrophic obstructive cardiomyopathy

1

6

and complex cyanotic heart defects , coarctation of the

4

aorta and even a case of Pentalogy of Fallot with right

aortic arch, a perimembranous non-restrictive VSD and

1

secundum ASD. In a study done amongst a highly con-

sanguineous population of DS patients, such defects as

aortic stenosis, coarctation of the aorta, transposition of

the great arteries and complex congenital heart diseases

7

were not seen. We found two cases of Pentalogy of Fal-

Discussion

lot, one of transposition of the great arteries and an iso-

lated pulmonary stenosis among our study population.

The incidence of cardiac defects in Down syndrome

patients seen in this study was 100% which is seemingly

high but explained by the fact that these patients were

referred for cardiac evaluation because of existing symp-

toms and signs suggestive of a cardiac pathology. This

incidence is thus understandably higher than the known

Down Syndrome patients with congenital heart defects

are known to develop pulmonary hypertension at an

earlier age than non-Down Syndrome patients with heart

9

defects – as early as 3-4 months of life. It is seen com-

monly in t₃h_,₉ose who have AVCDs especially the com-

plete type. The early development of pulmonary hy-

pertension has been attributed to the reduced pulmonary

alveolarization in DS or th₅e increased risk of upper res-

4

views of Down patients.

0-60% documented in₂t_-e₄r_,₉n_,₁a₃tionally and locally in re-

That 60% of the children were second born and higher

in birth order, differs from previous study results that

1

piratory tract obstruction. As a result of these develop-

3

DS patients were mainly the first born. This is probably

ments it is advocated that DS patients are reviewed by

cardiologists on or before six weeks of life (preferably

by 2 weeks) and a compl_,₁e₀te cardiac evaluation including

explained by the fact that some of the mothers in this

study are young and also multiparous.

9

ECG and ECHO done. All patients who have cardiac

Two-thirds of the mothers were younger than 35 years

which is similar to a Mexican study showing that the

highest proportion (34%) of the DS patients were born

defects should be offered surgery by the age of four

months to avoid the development of pulmonary hyper-

9

tension. Surgery is also done because of the possibility

of upper airway obstruction, respiratory symptoms,

feeding difficulties and poor growth that are symptoms

3

to mothers who were aged 16-25 years. . This is not in

keeping with previous studies that claimed DS due to

non-disjunction was commoner with advanced maternal

age. However, in this study chromosomal analysis was

not done. Another study showed there is no significant

difference in the mother’s age or race between those DS

patie₄nts who have cardiac defects and those who do

not.

12

associated with congestive heart failure. The younger a

DS child is at surgery the more likely it is to be success-

1

ful and the pulmonary hypertension reversible.

Amongst the patients studied only five (16%) had pul-

monary hypertension. Other studies have₃given the inci-

dence of pulmonary hypertension as 50%.

In this study, multiple cardiac defects were seen in 19

A review of national data proved that Down syndrome

patients had no increased mortality risk following sur-

gery for common heart defects. However they did have

longer hospital stays and higher rates of post-operative

complications after repairs of ASDs, VSDs and tetralogy

(

61%) patients with only nine (29%) patients having

isolated cardiac defects which were a solitary VSD,

ASD, PDA in contrast to other studies which showed

that more commonly DS₃_,p₇ atients have isolated heart

defects than multiple ones.

11

of Fallot. Another study says 15% of DS patients who

have surgery have a good outcome at one year from sur-

1

4

The commonest cardiac defect seen was PDA which

accounted for over 50% of cases and seen mainly in

combination. This contrasts with most studies done

worldwide in which atrio-ven₄_,t₅r_,₈ic_,₉u_,₁l₄a_-₁r₅ canal defects were

gery. Down Syndrome patients with complete AVCDs

who do not have surgery m₉ay either end up with severe

cardiac disability or death.

Four of the five patients

who had surgery were operated before one year of age

and the Pentalogy of Fallot repair was at two years of

age . Aside from the two who died ( both post-

opearatively and the other from another noncardiac sur-

gery one year later ) all other three are doing well post

operatively. The small percentage of patient s with DS

having surgery in our study is not only due to the cost

of the surgery (which is not done in Nigeria) but also

probably due to the fact that the parents are counseled

and aware that the cardiac surgery does not change the

phenotypic appearance and degrees of mental

the commonest heart defects.

Only two patients

had complete AVCD with single A-V valve in this

study, one of whom was diagnosed at one week of age

and died at twoweeks. Two others have transitional A-V

canal defect and are being managed medically and

awaiting surgery.

In Mexico and Oman, secundum atrial septal defects

3

,7

were the commonest heart defects seen in DS children

while in Malaysia₆ VSDs were found in a high of 41.1%

1

of DS patients. Other heart defects that have been

retardation associated with DS

documented are tetralogy of Fallot as a solitary₄_,₇l_,₁e₃s_,₁i₇on or

in combination with AVCDs, ASDs or PDAs

isolated pulmonary stenosis, hypertrophic cardio-

and

1

3

1

67

Conclusion

50% of DS patients underscores the need for early diag-

nosis and intervention to improve the quality and expec-

tancy of life. Routine extensive cardiac evaluation in the

first few weeks of life is advocated.

Down Syndrome patients have a number of manifesta-

tions, the most debilitating being the cardiac defects.

The incidence of multiple cardiac defects in more than

Conflict of interest: None

Funding: None

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